S99P (p.Ser99Pro) variant of NPC1 (O15118)
S99P (p.Ser99Pro) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S99P (p.Ser99Pro) variant details
- p.Ser99Pro
- gnomAD rs1393471949
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.69
- CADD 24.30
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available